Varaico: Literature-Extracted Genetic Variants

POMC

960 papers

RefSeq Summary

This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight pote...

Pfam Domains

NPPaa 27–70UCSCPro-opiomelanocortin, N-terminal region

ACTH_domainaa 74–91UCSCCorticotropin ACTH domain

ACTH_domainaa 136–155UCSCCorticotropin ACTH domain

ACTH_domainaa 218–236UCSCCorticotropin ACTH domain

Op_neuropeptideaa 237–264UCSCOpioids neuropeptide

Gene Aliases

HGNC Name

proopiomelanocortin

HGNC Alias Symbols

ACTH; NPP; LPH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000939.4

p.S243T

c.727T>A

Surrounding Variants

1 paper

NM_000939.4

p.S243P

c.727T>C

1 paper

NM_000939.4

p.S243F

c.728C>T

1 paper

NM_000939.4

p.T242fs

c.724_725fs

1 paper

NM_000939.4

p.T242I

c.725C>T

1 paper

NM_000939.4

p.T242S

c.725C>G

3 papers

NM_000939.4

p.E244*

c.730G>T

1 paper

NM_000939.4

p.E244Q

c.730G>C

1 paper

NM_000939.4

p.T242S

c.724A>T

1 paper

NM_000939.4

p.T242A

c.724A>G

1 paper

NM_000939.4

p.T242P

c.724A>C

2 papers

NM_000939.4

p.M241I

c.723G>T

2 papers

NM_000939.4

p.M241I

c.723G>C